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Orocraniodigital Syndrome

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Copyright 1996, 2004

Synonyms of Orocraniodigital Syndrome

Disorder Subdivisions

General Discussion

Orocraniodigital syndrome is an extremely rare inherited disorder characterized by multiple malformations of the head and face (craniofacial area) and the fingers and toes (digits). Major characteristics may include a vertical groove in the upper lip (cleft lip) and/or the inside, upper portion of the mouth (cleft palate), an abnormally small head (microcephaly), widely spaced eyes (ocular hypertelorism), improper development (hypoplasia) of the thumbs and/or toes, and/or webbing (syndactyly) of the toes. In some cases, malformations of certain skeletal bones may also be present. Mental retardation has occurred in the majority of cases. Orocraniodigital syndrome may be inherited as an autosomal recessive genetic trait.

Symptoms

In many cases, orocraniodigital syndrome is characterized by cleft lip and/or palate, malformations of the mouth and/or lips that are noticeable at birth (congenital). A cleft is an incomplete closure or groove on the inside, upper portion of the mouth (palate) or lips, or both. Clefts may be barely noticeable (occult), or they may cause severe deformities leading to difficulties in speaking.

There are several varieties of cleft lip and palate malformations. The most severe types of clefts involve the lips, gums, and certain tissues on the roof of the mouth (hard and soft palates). Less severe clefts may involve only one of these structures. Clefts may occur on one (unilateral) or both sides (bilateral) of the lips and/or palate.

Other primary symptoms of orocraniodigital syndrome may include an abnormally small head (microcephaly), widely spaced eyes (ocular hypertelorism), eyebrows that are slanted upward, and/or abnormalities affecting the thumbs and/or toes. These abnormalities may include improper development (hypoplasia) or absence (agenesis) of the thumbs; webbing (syndactyly) of the toes; stiff thumbs; and/or thumbs that are located lower or higher than normal.

In some cases, affected infants may also have low birthweight and/or kidneys that are joined at the base (horseshoe kidneys). The bone on the thumb side of the upper arm (radius) may be abnormally short or displaced (dislocated). In addition, affected individuals may also have abnormally formed elbows that may limit mobility (arm extension) and/or minor malformations of the spine, ribs, and/or certain bones in the hands (carpal bones). In the majority of cases, mental retardation may also occur.

Causes

Orocraniodigital syndrome is thought to be inherited as an autosomal recessive genetic trait. However, autosomal dominant inheritance has yet to be ruled out.

Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Affected Populations

Approximately 10 cases of orocraniodigital syndrome have been reported in the medical literature. The symptoms are usually obvious at birth.

Related Disorders

Craniofrontonasal dysplasia is a rare inherited disorder characterized by widely spaced eyes (ocular hypertelorism), a missing or grooved tip of the nose, a broad nasal bridge, and/or malformation of the long flat vertical bone in the center of the chest (sternum). Other abnormalities associated with this disorder may include an unusually wide mouth, webbed fingers and/or toes (syndactyly), split nails, a broad index finger, malformed (dysplastic) ears, and/or a broad high forehead. Craniofrontonasal dysplasia is thought to be inherited as an autosomal dominant genetic trait. (For more information on this disorder, choose "Craniofrontonasal Dysplasia" as your search term in the Rare Disease Database.)

Oral-facial-digital syndrome is a very rare inherited disorder that has four subdivisions. Symptoms common to all subdivisions include splits in the jaw; a split tongue; a broad nose; a vertical groove in the upper lip (cleft lip); extra fingers and/or toes (polydactyly); unusually short fingers and/or toes; and/or an extra fold of skin on either side of the nose that may cover the eyes' inner corners (epicanthal folds). The exact cause of oral-facial-digital syndrome is unknown. Type I is believed to be inherited as an autosomal dominant genetic trait; Types II, III, and IV may be inherited as autosomal recessive genetic traits. (For more information on this disorder, choose "Oral-Facial-Digital" as your search term in the Rare Disease Database.)

Frontofacionasal dysplasia is a very rare disorder characterized by cleft lip and/or palate, an unusually wide space between the eyes (ocular hypertelorism), an abnormally large distance between the upper and lower eyelids (telecanthus), a short broad head (brachycephaly), and/or underdevelopment of the middle portion of the face (e.g., forehead, nose, and/or chin). Additional abnormalities may include an abnormal opening in the skull (cranium bifidum occultum) through which membranes that cover the brain may protrude (encephalocele) and/or a fatty tumor (lipomata) on the frontal lobe of the brain. Frontofacionasal dysplasia is inherited as an autosomal recessive genetic trait. (For more information on this disorder, choose "Frontofacionasal Dysplasia" as your search term in the Rare Disease Database.)

Frontonasal dysplasia, also known as median cleft face syndrome, is a very rare inherited disorder characterized by widely spaced eyes, a broad nose, a vertical groove down the tip of the nose or a nose that may be split in two, and/or an abnormal, covered gap in the skull (cranium bifidum occultum). Other symptoms may include a short head (brachycephaly); cleft lip and/or palate; abnormally small eyeballs (microphthalmia); and/or mild mental retardation. The cause of frontonasal dysplasia is not known; most cases tend to occur randomly with no apparent cause (sporadic). (For more information on this disorder, choose "Frontonasal" as your search term in the Rare Disease Database.)

Standard Therapies

Orocraniodigital Syndrome is usually diagnosed shortly after birth (neonatal period) based upon a thorough clinical evaluation. Treatment of this disorder depends upon the specifics and severity of each individual case. Surgery may correct some of the craniofacial deformities associated with this disorder. For example, infants with cleft lip may require surgery; in some cases, additional surgery may be necessary when the child grows older. Cleft palate may also be surgically repaired. In some cases, hand and/or feet malformations associated with Orocraniodigital Syndrome may also be surgically corrected.

Genetic counseling will be of benefit for affected individuals and their families. A team approach for infants and children with this disorder may be of benefit and may include special social, educational, and medical services. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Orocraniodigital Syndrome

References

TEXTBOOKS
Gorlin RJ, Cohen MM Jr, Levin LS, eds. Syndromes of the Head and Neck. 3rd ed. Oxford University Press, London, UK; 1990

JOURNAL ARTICLES
Hedera P, Innis JW. Juberg-Haywood syndrome: report of a new patient with severe phenotype and novel clinical features. Am J Med Genet. 2003;122A:257-60.

Reardon W, Hall CM, Gorman W. An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Haywood syndromes. Clin Dysmorphol. 2001;10:123-28.

Silengo M, Tornetta L. Juberg-Haywood syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies. Clin Dysmorphol. 2000;9:127-29.

Kantaputra PN, Mongkolchaisup S. Juberg-Haywood syndrome: a new case report and clinical delineation of the syndrome. Clin Dysmorphol. 1999;8:123-27.

FROM THE INTERNET
Juberg-Haywood syndrome. Orphanet. April 2003. 1p.
www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2319

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Cleft Lip/Palate with Abnormal Thumbs and Microcephaly. Entry Number; 216100: Last Edit Date; 12/5/2003

Report last updated: 2008/03/02 00:00:00 GMT+0